Canonical Allele Identifier: CA10420313
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1133076
ClinVar RCV Id: RCV001467524
dbSNP Id: rs368345004
ExAC: X:53409445 G / C
gnomAD v2: X-53409445-G-C
gnomAD v3: X-53382524-G-C
gnomAD v4: X-53382524-G-C
MyVariant Identifiers: chrX:g.53409445G>C (hg19) chrX:g.53382524G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382524G>C , CM000685.2:g.53382524G>C GRCh38
NC_000023.10:g.53409445G>C , CM000685.1:g.53409445G>C GRCh37
NC_000023.9:g.53426170G>C NCBI36
NG_006988.2:g.45147C>G , LRG_773:g.45147C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3267C>G MANE Select ENSP00000323421.3:p.Ser1089=
ENST00000674590.1:c.2499C>G ENSP00000502626.1:p.Ser833=
ENST00000675504.1:c.3201C>G ENSP00000502524.1:p.Ser1067=
ENST00000322213.8:c.3267C>G ENSP00000323421.3:p.Ser1089=
ENST00000375340.10:c.3201C>G ENSP00000364489.7:p.Ser1067=
ENST00000469129.1:n.123C>G
ENST00000470241.2:c.557C>G
NM_001281463.1:c.3201C>G , LRG_773t1:c.3201C>G NP_001268392.1:p.Ser1067=
NM_006306.3:c.3267C>G , LRG_773t2:c.3267C>G NP_006297.2:p.Ser1089=
NM_006306.4:c.3267C>G MANE Select NP_006297.2:p.Ser1089=
Search 100 bp 5'
Search 100 bp 3'